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Study Links Enzyme Buildup to Angelman Syndrome Symptoms in Mice

A Nature study reports that loss of the UBE3A gene causes an overabundance of asparagine synthetase in human neurons and mouse models, and that this excess is linked to many Angelman syndrome phenotypes, including stunted brain growth in mice.

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Oct 21, 8:00 AM medicalxpress.com Buildup of normally harmless enzyme stunts brain growth in mice with Angelman syndrome
Oct 20, 5:00 PM nature.com Persistent neuronal stress signalling underlies Angelman syndrome phenotypes